Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients

Human Biology | April 1, 2001| | Copyright

Abstract Identification of mutations causing cystic fibrosis (CF) in the Turkish population is essential for assessment of the molecular basis of CF in Turkey and the development of strategies for prenatal diagnosis and genetic counseling. Here, we present an updated report of mutations found in the Turkish CF population from an extensive screening study of the entire coding region, including exon-intron boundaries and the promoter region. Cases for which mutations could not be identified were also screened for previously defined large alterations and (TG)^sub m^T^sub n^-M470V loci. This ...

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